Genetic alterations in esophageal cancers: Detection by next-generation sequencing and potential for therapeutic targets.

Journal of Clinical Oncology(2017)

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摘要
e22065 Background: A large number of esophageal cancer patients present with advanced or metastatic disease and their overall prognosis is poor. In order to improve survival, we need to identify molecular abnormalities and apply novel targeted therapies. Methods: In order to characterize esophageal cancers (adenocarcinoma (AC) and squamous cell carcinoma [SCC]), we systematically obtained next generation sequencing (NGS) data through established platforms on tumors from patients with esophageal cancer. Patients were enrolled on an IRB approved protocol, and had tissue banked for molecular testing. Clinical characteristics of the patients were also evaluated. Results: Our initial cohort comprised 4 SCC and 16 AC patients. Of AC patients, 14 were male, 11 had a history of tobacco use and 4 had Barrett’s esophagus. Of patients with SCC, all 4 were female and 3 had a history of tobacco use. We found that each patientu0027s tumor DNA analysis had a unique mutational profile. As expected, p53 mutations were extreme...
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